Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly

BACKGROUND: Autosomal Recessive Primary Microcephaly (MCPH) is a disorder of neurogenic mitosis. MCPH leads to reduced cerebral cortical volume and hence, reduced head circumference associated with mental retardation of variable degree. Genetic heterogeneity is well documented in patients with MCPH...

Descripción completa

Detalles Bibliográficos
Autores principales: Hassan, Muhammad Jawad, Khurshid, Maryam, Azeem, Zahid, John, Peter, Ali, Ghazanfar, Chishti, Muhammad Salman, Ahmad, Wasim
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2072945/
https://www.ncbi.nlm.nih.gov/pubmed/17764569
http://dx.doi.org/10.1186/1471-2350-8-58

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2072945/
https://www.ncbi.nlm.nih.gov/pubmed/17764569
http://dx.doi.org/10.1186/1471-2350-8-58

Ejemplares similares